Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Heart Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Wide spaced nipples
|
phenotype |
|
Finding
|
96
|
19
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Encephalopathy, CTCAE 3.0
|
phenotype |
|
Finding
|
14
|
24
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
|
|
|
Thin rib
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|